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SNP linked to Gene (geneID:27340) Via Contig Annotation

rs# on all gene models to Batch Query
all rs# to file.

  Gene Model (mRNA alignment) information from genome sequence back to top
Total gene model (contig mRNA transcript): 1
mrnatranscriptproteinmrna orientationContigContig LabelList SNP
NM_014503.2plus strandNP_055318.2forwardNT_029419.13GRCh38.p7<- currently shown

Clinical Source in gene region cSNP has frequency double hit

gene model
(contig mRNA transcript):
Contig LabelContigmrnaproteinmrna orientationtranscriptsnp count
GRCh38.p7NT_029419.13NM_014503.2NP_055318.2forwardplus strand2534, coding

Region Chr.
position
mRNA
pos
dbSNP rs#
cluster id
Hetero-
zygosity
Validation MAF Allele
origin
3D Linkout Function dbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
PubMed
101280289163 rs1047957812 N.D. missenseCPro [P]13
contig referenceAThr [T]13
101280290164 rs1486690302 N.D. missenseTIle [I]23
contig referenceCThr [T]23
101280294168 rs1186890675 N.D. missenseTAsn [N]34
synonymousALys [K]34
contig referenceGLys [K]34
101280295169 rs903392204 N.D. missenseTSer [S]15
contig referenceCPro [P]15
101280297171 rs886685641 N.D. synonymousTPro [P]35
contig referenceCPro [P]35
101280298172 rs1461879567 N.D. missenseAIle [I]16
contig referenceGVal [V]16
101280299173 rs1431115269 N.D. missenseCAla [A]26
contig referenceTVal [V]26
101280303177 rs770921321 0.000 synonymousGSer [S]37
synonymousTSer [S]37
contig referenceCSer [S]37
101280304178 rs1207441191 N.D. frame shiftAGln [Q]18
contig reference-His [H]18
101280311185 rs1429335228 N.D. missenseTIle [I]210
contig referenceCThr [T]210
101280315189 rs1037758439 N.D. missenseTAsp [D]311
contig referenceGGlu [E]311
101280318192 rs1456307554 N.D. synonymousTAsn [N]312
contig referenceCAsn [N]312
101280320194 rs1157518164 N.D. missenseTIle [I]213
contig referenceCThr [T]213
101280321195 rs1391480284 N.D. synonymousAThr [T]313
synonymousTThr [T]313
contig referenceCThr [T]313
101280322196 rs1327668743 N.D. missenseCHis [H]114
missenseGAsp [D]114
contig referenceTTyr [Y]114
101280325199 rs1431885310 N.D. missenseTTrp [W]115
contig referenceCArg [R]115
101280327201 rs774438661 0.000 synonymousAArg [R]315
contig referenceGArg [R]315
101281121207 rs747713572 0.000byFreq synonymousCLeu [L]317
contig referenceTLeu [L]317
101281124210 rs78240090 0.001byClusterbyFreqWith1000GenomeData0.0014 synonymousGThr [T]318
contig referenceAThr [T]318
101281126212 rs777483339 0.000 missenseGCys [C]219
contig referenceTPhe [F]219
101281130216 rs1275402266 N.D. synonymousAAla [A]320
contig referenceTAla [A]320
101281134220 rs1311999347 N.D. nonsenseT122
contig referenceCArg [R]122
101281135221 rs151017457 0.001byClusterbyFreqWith1000GenomeData0.0018 missenseAGln [Q]222
contig referenceGArg [R]222
101281139225 rs1269296183 N.D. synonymousCLeu [L]323
contig referenceGLeu [L]323
101281140226 rs770835593 0.000byFreq missenseAArg [R]124
missenseCArg [R]124
contig referenceGGly [G]124
101281143229 rs201119620 0.002byCluster missenseGAsp [D]125
contig referenceAAsn [N]125
101281145231 rs1482538433 N.D. synonymousCAsn [N]325
contig referenceTAsn [N]325
101281151237 rs759513776 0.000 synonymousCAsn [N]327
contig referenceTAsn [N]327
101281156242 rs772093974 0.000 missenseGGly [G]229
contig referenceAAsp [D]229
101281159245 rs1470261642 N.D. missenseCThr [T]230
contig referenceTIle [I]230
101281167253 rs1181779838 N.D. missenseTTrp [W]133
contig referenceCArg [R]133
101281168254 rs1254828460 N.D. missenseAGln [Q]233
contig referenceGArg [R]233
101281169255 rs569711663 N.D. synonymousAArg [R]333
contig referenceGArg [R]333
101281170256 rs1339548321 N.D. frame shiftT135
contig reference-Asp [D]135
101281170256 rs1412281080 N.D. missenseCLeu [L]134
contig referenceAIle [I]134
101281171257 rs1446753350 N.D. missenseCThr [T]234
contig referenceTIle [I]234
101281177263 rs1344179662 N.D. missenseALys [K]236
contig referenceGArg [R]236
101281183269 rs138442594 0.000byCluster missenseAGlu [E]238
contig referenceCAla [A]238
101281184270 rs1370133097 N.D. synonymousCAla [A]338
contig referenceAAla [A]338
101281188274 rs1428039371 N.D. missenseCHis [H]140
contig referenceTTyr [Y]140
101281193279 rs375777481 0.000byCluster synonymousAGlu [E]341
contig referenceGGlu [E]341
101281195281 rs1355179634 N.D. missenseGGly [G]242
contig referenceAGlu [E]242
101285572285 rs1275866065 N.D. synonymousAGlu [E]343
contig referenceGGlu [E]343
101285577290 rs766639911 0.000 missenseCAla [A]245
missenseGGly [G]245
contig referenceAGlu [E]245
101285585298 rs201613032 0.000byClusterWith1000GenomeData0.0002 missenseAIle [I]148
contig referenceTPhe [F]148
101285589302 rs199984180 0.001byClusterbyFreq missenseCSer [S]249
missenseGCys [C]249
contig referenceTPhe [F]249
101285593306 rs1248010989 N.D. missenseCAsp [D]350
contig referenceGGlu [E]350
101285594307 rs767850144 0.000 missenseASer [S]151
contig referenceGGly [G]151
101285595308 rs1195783643 N.D. missenseAAsp [D]251
contig referenceGGly [G]251
101285597310 rs753229960 0.000 synonymousTLeu [L]152
contig referenceCLeu [L]152
101285601314 rs574807809 0.000byFreqWith1000GenomeData0.0002 missenseAGln [Q]253
contig referenceTLeu [L]253
101285606319 rs1015507981 N.D.byCluster frame shiftGGlu [E]156
contig reference-Arg [R]156
101285612325 rs1171081345 N.D. nonsenseT157
missenseALys [K]157
contig referenceGGlu [E]157
101285622335 rs756264023 0.000 frame shift-Pro [P]260
contig referenceTLeu [L]260
101285623336 rs763627342 0.000 synonymousTLeu [L]360
contig referenceCLeu [L]360
101285624337 rs753446896 0.000 missenseGAla [A]161
contig referenceAThr [T]161
101285625338 rs1419326275 N.D. missenseTIle [I]261
contig referenceCThr [T]261
101285626339 rs777897667 0.000 frame shift-Thr [T]362
contig referenceAGGlu [E]362
101285631344 rs756918885 0.000byFreq missenseGArg [R]263
contig referenceAHis [H]263
101285632345 rs1387825026 N.D. synonymousTHis [H]363
contig referenceCHis [H]363
101285634347 rs778741912 0.000 missenseATyr [Y]264
contig referenceTPhe [F]264
101285635348 rs143038674 0.000byClusterbyFreq synonymousTPhe [F]364
contig referenceCPhe [F]364
101285636349 rs1444527886 N.D. nonsenseT165
contig referenceGGly [G]165
101285750351 rs746070451 0.000byFreq synonymousTGly [G]365
contig referenceAGly [G]365
101285752353 rs887997462 N.D. missenseGArg [R]266
contig referenceALys [K]266
101285761362 rs959303458 N.D. missenseGArg [R]269
contig referenceALys [K]269
101285770371 rs772232391 0.000 missenseCThr [T]272
contig referenceTIle [I]272
101285772373 rs775873004 0.000 missenseTTyr [Y]173
contig referenceGAsp [D]173
101285776377 rs1232902128 N.D. missenseGArg [R]274
contig referenceALys [K]274
101285783384 rs760976690 0.000 synonymousGGln [Q]376
contig referenceAGln [Q]376
101285785386 rs1171109336 N.D. missenseTLeu [L]277
contig referenceCSer [S]277
101285789390 rs542537526 0.000With1000GenomeData0.0002 missenseGLeu [L]378
contig referenceCPhe [F]378
101285791392 rs140064475 0.001byClusterbyFreqWith1000GenomeData0.0022 missenseGSer [S]279
contig referenceAAsn [N]279
101285799400 rs762468305 0.000byFreq missenseAMet [M]182
missenseCLeu [L]182
missenseTLeu [L]182
contig referenceGVal [V]182
101285801402 rs17031227 0.006byClusterbyFreqWith1000GenomeData0.0132 synonymousAVal [V]382
contig referenceGVal [V]382
101285803404 rs749945156 0.000 missenseGCys [C]283
missenseTPhe [F]283
contig referenceATyr [Y]283
101285807408 rs762707848 0.000byFreq missenseAGln [Q]384
contig referenceCHis [H]384
101285813414 rs553438921 0.000byClusterbyFreq synonymousTAsn [N]386
contig referenceCAsn [N]386
101285814415 rs751332898 0.000byFreq missenseALys [K]187
contig referenceGGlu [E]187
101285817418 rs149447402 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGVal [V]188
contig referenceAIle [I]188
101285818419 rs375167600 0.003byClusterbyFreqWith1000GenomeData0.0058 missenseCThr [T]288
contig referenceTIle [I]288
101285819420 rs1474140212 N.D. missenseGMet [M]388
contig referenceAIle [I]388
101285832433 rs1360665519 N.D. missenseGGlu [E]193
contig referenceALys [K]193
101285833434 rs189494608 0.000byClusterWith1000GenomeData0.0002 missenseGArg [R]293
contig referenceALys [K]293
101285840441 rs756081314 0.000 missenseAGln [Q]395
synonymousTHis [H]395
contig referenceCHis [H]395
101285840441 rs1249890918 N.D. frame shift-Cys [C]396
contig referenceCLeu [L]396
101285841442 rs779027623 0.000byClusterbyFreq missenseAMet [M]196
missenseGVal [V]196
synonymousTLeu [L]196
contig referenceCLeu [L]196
101285844445 rs1251101276 N.D. missenseALys [K]197
contig referenceCGln [Q]197
101285846447 rs772296088 0.000 missenseCHis [H]397
contig referenceAGln [Q]397
101285847448 rs764439575 N.D. missenseAIle [I]198
contig referenceGVal [V]198
101285848449 rs1244743209 N.D. missenseCAla [A]298
contig referenceTVal [V]298
101285855456 rs1445080915 N.D. missenseGLys [K]3100
contig referenceCAsn [N]3100
101285856457 rs1167511207 N.D. missenseCArg [R]1101
contig referenceASer [S]1101
101285861462 rs780141890 0.000byCluster synonymousCPhe [F]3102
contig referenceTPhe [F]3102
101285864465 rs1463035541 N.D. synonymousTAla [A]3103
contig referenceCAla [A]3103
101285866467 rs747342486 0.000byFreq missenseGCys [C]2104
contig referenceATyr [Y]2104
101285870471 rs1400931305 N.D. synonymousGGln [Q]3105
contig referenceAGln [Q]3105
101285874475 rs143875613 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseGVal [V]1107
contig referenceCLeu [L]1107
101285877478 rs1339347432 N.D. synonymousCLeu [L]1108
contig referenceTLeu [L]1108
101285878479 rs141647075 N.D. frame shift-Trp [W]2108
contig referenceTLeu [L]2108
101285880481 rs78440807 0.033byClusterbyFreqWith1000GenomeData0.0098 missenseAAsn [N]1109
contig referenceGAsp [D]1109
101285881482 rs368079018 0.000byClusterbyFreq missenseGGly [G]2109
contig referenceAAsp [D]2109
101286324486 rs1287507270 N.D. missenseTPhe [F]3110
contig referenceGLeu [L]3110
101286328490 rs1364582190 N.D. missenseTLeu [L]1112
contig referenceGVal [V]1112
101286329491 rs755292222 0.000byFreq missenseCAla [A]2112
contig referenceTVal [V]2112
101286330492 rs1466891179 N.D. synonymousGVal [V]3112
contig referenceAVal [V]3112
101286339501 rs1011981049 N.D. synonymousGAla [A]3115
contig referenceAAla [A]3115
101286340502 rs1300922546 N.D. nonsenseT1116
contig referenceCArg [R]1116
101286352514 rs781676133 0.000 missenseGVal [V]1120
missenseTLeu [L]1120
contig referenceAMet [M]1120
101286353515 rs2290723 0.046byClusterbyFreqWith1000GenomeData0.0321 missenseALys [K]2120
missenseALys [K]2120
missenseCThr [T]2120
missenseCThr [T]2120
contig referenceTMet [M]2120
contig referenceTMet [M]2120
101286364526 rs773600658 0.000 missenseTSer [S]1124
contig referenceCPro [P]1124
101286365527 rs1324216456 N.D. missenseTLeu [L]2124
contig referenceCPro [P]2124
101286367529 rs1215046089 N.D. missenseTTyr [Y]1125
contig referenceCHis [H]1125
101286368530 rs1258709083 N.D. missenseGArg [R]2125
contig referenceAHis [H]2125
101286372534 rs369418489 0.000byCluster missenseGLeu [L]3126
synonymousCPhe [F]3126
contig referenceTPhe [F]3126
101286373535 rs749860562 0.000 missenseAThr [T]1127
contig referenceCPro [P]1127
101286375537 rs770341509 0.000 synonymousGPro [P]3127
contig referenceAPro [P]3127
101286378540 rs769562021 0.000byFreq frame shiftTPhe [F]3131
contig reference-Leu [L]3131
101286379541 rs761528888 0.000byFreq frame shift-1131
contig referenceTLeu [L]1131
101286381543 rs967727528 N.D. missenseGLeu [L]3129
contig referenceTPhe [F]3129
101286385547 rs1479131512 N.D. synonymousCLeu [L]1131
contig referenceTLeu [L]1131
101286387549 rs773948737 0.000 missenseTPhe [F]3131
contig referenceGLeu [L]3131
101286388550 rs373688404 0.000byClusterbyFreq missenseTSer [S]1132
contig referenceAThr [T]1132
101286391553 rs1472536607 N.D. -1133
101286394556 rs1193683579 N.D. missenseGAla [A]1134
contig referenceAThr [T]1134
101286398560 rs147399996 0.000byClusterbyFreqWith1000GenomeData0.0006 missenseTLeu [L]2135
contig referenceCSer [S]2135
101286399561 rs139691544 0.001byClusterbyFreqWith1000GenomeData0.0018 synonymousASer [S]3135
contig referenceGSer [S]3135
101286401563 rs760465766 0.000 missenseCThr [T]2136
contig referenceTIle [I]2136
101286402564 rs764033063 0.000 synonymousTIle [I]3136
contig referenceCIle [I]3136
101286408570 rs199840181 0.000byClusterWith1000GenomeData0.0002 synonymousAGlu [E]3138
contig referenceGGlu [E]3138
101286412574 rs1371439798 N.D. nonsenseT1140
contig referenceCGln [Q]1140
101286415577 rs753707234 0.000byFreq missenseAAsn [N]1141
contig referenceGAsp [D]1141
101286417579 rs921787466 N.D. synonymousTAsp [D]3141
contig referenceCAsp [D]3141
101286424586 rs1363980618 N.D. synonymousCLeu [L]1144
contig referenceTLeu [L]1144
101286425587 rs1406794433 N.D. missenseCSer [S]2144
contig referenceTLeu [L]2144
101286426588 rs757288601 0.000 synonymousALeu [L]3144
contig referenceGLeu [L]3144
101286427589 rs907528322 N.D. missenseAIle [I]1145
contig referenceTLeu [L]1145
101286432594 rs145256826 0.000byClusterbyFreq missenseCAsp [D]3146
contig referenceAGlu [E]3146
101286442604 rs751739229 0.000 missenseGAla [A]1150
contig referenceAThr [T]1150
101286444606 rs755206382 0.000byFreq synonymousGThr [T]3150
contig referenceCThr [T]3150
101286445607 rs781599831 0.000 missenseGAla [A]1151
contig referenceTSer [S]1151
101286446608 rs376796297 0.000byClusterbyFreq missenseGTrp [W]2151
missenseTLeu [L]2151
contig referenceCSer [S]2151
101286447609 rs1290527449 N.D. synonymousASer [S]3151
contig referenceGSer [S]3151
101286449611 rs756451766 0.000byFreq missenseCSer [S]2152
contig referenceTLeu [L]2152
101286451613 rs201815900 0.000byClusterWith1000GenomeData0.0002 missenseCPro [P]1153
contig referenceTSer [S]1153
101286452614 rs749723360 0.000 nonsenseA2153
contig referenceCSer [S]2153
101286453615 rs1480060026 N.D. synonymousGSer [S]3153
contig referenceASer [S]3153
101286454616 rs1342829764 N.D. missenseCHis [H]1154
contig referenceTTyr [Y]1154
101286455617 rs771513621 0.000 missenseGCys [C]2154
contig referenceATyr [Y]2154
101286458620 rs773800381 0.000 missenseGArg [R]2155
contig referenceTLeu [L]2155
101286461623 rs745413991 0.000 missenseGCys [C]2156
contig referenceATyr [Y]2156
101286466628 rs1299725788 N.D. missenseCHis [H]1158
contig referenceTTyr [Y]1158
101286468630 rs771643392 0.000 synonymousTTyr [Y]3158
contig referenceCTyr [Y]3158
101286469631 rs1175582409 N.D. synonymousTLeu [L]1159
contig referenceCLeu [L]1159
101286474636 rs1231883081 N.D. missenseCCys [C]3160
contig referenceGTrp [W]3160
101286482644 rs1163367785 N.D. missenseALys [K]2163
contig referenceTMet [M]2163
101286494656 rs147632286 0.000byClusterbyFreq missenseALys [K]2167
missenseCThr [T]2167
contig referenceTMet [M]2167
101286495657 rs142220773 0.003byClusterbyFreqWith1000GenomeData0.0050 missenseAIle [I]3167
contig referenceGMet [M]3167
101286497659 rs776529179 0.000 missenseGCys [C]2168
contig referenceCSer [S]2168
101286500662 rs200657881 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTIle [I]2169
contig referenceGSer [S]2169
101286502664 rs765245286 0.000 missenseGVal [V]1170
contig referenceAIle [I]1170
101288960672 rs1164386653 N.D. synonymousTSer [S]3172
contig referenceCSer [S]3172
101288962674 rs998194291 N.D. missenseCThr [T]2173
contig referenceTMet [M]2173
101288962674 rs1240444635 N.D. frame shiftGTACVal [V]2175
contig reference-Ser [S]2175
101288963675 rs752936556 0.000 missenseCIle [I]3173
contig referenceGMet [M]3173
101288967679 rs1408238650 N.D. missenseGGly [G]1175
contig referenceASer [S]1175
101288971683 rs566754342 N.D.byCluster missenseTIle [I]2176
contig referenceCThr [T]2176
101288973685 rs865912868 N.D.byCluster missenseTPhe [F]1177
contig referenceCLeu [L]1177
101288975687 rs776241811 0.000 synonymousGLeu [L]3177
contig referenceCLeu [L]3177
101288979691 rs1336075160 N.D. missenseAThr [T]1179
contig referenceGAla [A]1179
101288982694 rs761702669 0.000 missenseTTyr [Y]1180
contig referenceCHis [H]1180
101288986698 rs146982196 0.004byClusterbyFreqWith1000GenomeData0.0070 missenseGArg [R]2181
contig referenceALys [K]2181
101288988700 rs1315268123 N.D. missenseGGlu [E]1182
contig referenceALys [K]1182
101288990702 rs1338375377 N.D. synonymousGLys [K]3182
contig referenceALys [K]3182
101288992704 rs567907949 0.000With1000GenomeData0.0002 missenseCPro [P]2183
contig referenceTLeu [L]2183
101288993705 rs763046015 0.000 synonymousGLeu [L]3183
contig referenceALeu [L]3183
101288994706 rs1274459581 N.D. missenseTTyr [Y]1184
contig referenceCHis [H]1184
101288996708 rs535107469 0.000With1000GenomeData0.0002 missenseAGln [Q]3184
contig referenceTHis [H]3184
101288997709 rs555371440 0.000byFreqWith1000GenomeData0.0002 missenseGVal [V]1185
contig referenceAIle [I]1185
101289004716 rs1383919700 N.D. missenseGSer [S]2187
contig referenceAAsn [N]2187
101289005717 rs1008047250 N.D. synonymousCAsn [N]3187
contig referenceTAsn [N]3187
101289008720 rs375949016 0.000byClusterbyFreq synonymousCPhe [F]3188
contig referenceTPhe [F]3188
101289009721 rs764407781 0.000 missenseAThr [T]1189
contig referenceGAla [A]1189
101289011723 rs754082710 0.000 synonymousCAla [A]3189
contig referenceTAla [A]3189
101289023735 rs368669699 0.000byCluster missenseGLeu [L]3193
contig referenceTPhe [F]3193
101289027739 rs1444997495 N.D. missenseCLeu [L]1195
contig referenceTPhe [F]1195
101289031743 rs187729337 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseGTrp [W]2196
contig referenceTLeu [L]2196
101289032744 rs750927105 0.000 synonymousALeu [L]3196
contig referenceGLeu [L]3196
101289033745 rs758944883 0.000byFreq missenseGVal [V]1197
contig referenceAMet [M]1197
101289039751 rs1175539996 N.D. missenseCGln [Q]1199
contig referenceALys [K]1199
101290141758 rs376412636 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseTPhe [F]2201
contig referenceCSer [S]2201
101290143760 rs1243893306 N.D. missenseTTyr [Y]1202
contig referenceGAsp [D]1202
101290144761 rs1205625954 N.D. missenseGGly [G]2202
contig referenceAAsp [D]2202
101290150767 rs1348553737 N.D. missenseGSer [S]2204
contig referenceAAsn [N]2204
101290151768 rs703715 0.477byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData0.3333 synonymousTAsn [N]3204
contig referenceCAsn [N]3204
101290152769 rs750971526 0.000byFreq missenseAThr [T]1205
contig referenceGAla [A]1205
101290153770 rs1319804145 N.D. missenseAGlu [E]2205
contig referenceCAla [A]2205
101290154771 rs754533290 0.000 synonymousGAla [A]3205
contig referenceAAla [A]3205
101290159776 rs780629141 0.000 missenseCSer [S]2207
contig referenceTPhe [F]2207
101290162779 rs974542710 N.D. missenseGSer [S]2208
contig referenceAAsn [N]2208
101290163780 rs747836276 0.000 synonymousCAsn [N]3208
contig referenceTAsn [N]3208
101290166783 rs1320301691 N.D. synonymousGLeu [L]3209
contig referenceALeu [L]3209
101290167784 rs796192637 N.D.byCluster missenseGVal [V]1210
contig referenceAMet [M]1210
101290168785 rs755877160 0.000 missenseALys [K]2210
missenseCThr [T]2210
contig referenceTMet [M]2210
101290172789 rs1460435166 N.D. missenseGLeu [L]3211
contig referenceTPhe [F]3211
101290173790 rs777657859 0.000 missenseAIle [I]1212
contig referenceCLeu [L]1212
101290175792 rs1394815130 N.D. synonymousCLeu [L]3212
contig referenceTLeu [L]3212
101290181798 rs1381581862 N.D. synonymousCLeu [L]3214
contig referenceTLeu [L]3214
101290185802 rs1348911016 N.D. missenseGGlu [E]1216
contig referenceALys [K]1216
101290187804 rs929957930 N.D. synonymousGLys [K]3216
contig referenceALys [K]3216
101290189806 rs1225866719 N.D. missenseTLeu [L]2217
contig referenceAHis [H]2217
101290191808 rs1336885951 N.D. missenseTSer [S]1218
contig referenceCPro [P]1218
101290192809 rs749123222 0.000byFreq missenseGArg [R]2218
contig referenceCPro [P]2218
101290197814 rs1490242538 N.D. missenseGGlu [E]1220
contig referenceALys [K]1220
101290201818 rs1382058797 N.D. missenseCAla [A]2221
contig referenceTVal [V]2221
101290203820 rs1220589083 N.D. missenseCGln [Q]1222
contig referenceGGlu [E]1222
101290208825 rs1157963865 N.D. synonymousCGly [G]3223
contig referenceTGly [G]3223
101290209826 rs1219252817 N.D. missenseAIle [I]1224
contig referenceGVal [V]1224
101290211828 rs1454207765 N.D. synonymousCVal [V]3224
contig referenceTVal [V]3224
101290214831 rs1442618646 N.D. synonymousTGly [G]3225
contig referenceAGly [G]3225
101290216833 rs770923470 0.000 missenseGArg [R]2226
contig referenceAGln [Q]2226
101290221838 rs1161436654 N.D. missenseTPhe [F]1228
contig referenceCLeu [L]1228
101290222839 rs1042382250 N.D. missenseCPro [P]2228
contig referenceTLeu [L]2228
101290232849 rs1386105412 N.D. missenseAIle [I]3231
contig referenceGMet [M]3231
101290233850 rs774357952 0.000 missenseCArg [R]1232
contig referenceTCys [C]1232
101290236853 rs528105491 0.000With1000GenomeData0.0002 missenseGGlu [E]1233
contig referenceALys [K]1233
101290249866 rs866407245 N.D.byCluster missenseCThr [T]2237
contig referenceAAsn [N]2237
101290252869 rs201614926 0.000byClusterWith1000GenomeData0.0002 missenseCThr [T]2238
contig referenceTMet [M]2238
101290261878 rs776616066 0.000 missenseTPhe [F]2241
contig referenceCSer [S]2241
101290263880 rs762000750 0.000 missenseGGly [G]1242
contig referenceTCys [C]1242
101290267884 rs765467951 0.000 missenseTIle [I]2243
contig referenceCThr [T]2243
101290268885 rs773526512 0.000byFreq synonymousGThr [T]3243
contig referenceAThr [T]3243
101290270887 rs1423572444 N.D. missenseAAsp [D]2244
missenseTVal [V]2244
contig referenceGGly [G]2244
101290272889 rs763314193 0.000byCluster nonsenseT1245
contig referenceCGln [Q]1245
101290733892 rs753739452 N.D. missenseAThr [T]1246
contig referenceGAla [A]1246
101290751910 rs771952656 0.000byFreq nonsenseT1252
missenseGGly [G]1252
contig referenceCArg [R]1252
101290752911 rs372093743 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGln [Q]2252
contig referenceGArg [R]2252
101290756915 rs769938158 0.000byClusterbyFreq missenseCAsn [N]3253
synonymousALys [K]3253
contig referenceGLys [K]3253
101290759918 rs1317372240 N.D. synonymousGLeu [L]3254
contig referenceALeu [L]3254
101290768927 rs945747224 N.D. synonymousTVal [V]3257
contig referenceCVal [V]3257
101290769928 rs965537886 N.D. missenseGAla [A]1258
contig referenceAThr [T]1258
101290771930 rs1341318540 N.D. frame shift-Lys [K]3259
contig referenceTGlu [E]3259
101290773932 rs551412332 0.001byClusterbyFreqWith1000GenomeData0.0006 missenseCAla [A]2259
contig referenceAGlu [E]2259
101290774933 rs1249653730 N.D. missenseCAsp [D]3259
contig referenceAGlu [E]3259
101290775934 rs771327304 0.000byFreq missenseGAla [A]1260
contig referenceAThr [T]1260
101290776935 rs774622092 0.000byFreq missenseALys [K]2260
contig referenceCThr [T]2260
101290786945 rs1258645092 N.D. missenseTHis [H]3263
contig referenceAGln [Q]3263
101290791950 rs890775309 N.D. missenseAGln [Q]2265
contig referenceCPro [P]2265
101290792951 rs760036717 0.000 synonymousGPro [P]3265
contig referenceAPro [P]3265
101290793952 rs767936184 0.000byFreq missenseCArg [R]1266
contig referenceTTrp [W]1266
101290797956 rs1423999324 N.D. missenseCThr [T]2267
contig referenceTMet [M]2267
101290798957 rs1192111573 N.D. missenseAIle [I]3267
contig referenceGMet [M]3267
101290799958 rs994342175 N.D. missenseGVal [V]1268
contig referenceTLeu [L]1268
101290805964 rs752186235 0.000byFreq missenseAArg [R]1270
contig referenceGGly [G]1270
101290806965 rs760272496 0.000byClusterbyFreq missenseAGlu [E]2270
contig referenceGGly [G]2270
101290807966 rs754978733 N.D. synonymousGGly [G]3270
contig referenceAGly [G]3270
101290811970 rs375265829 0.000byCluster missenseGAla [A]1272
contig referenceAThr [T]1272
101290816975 rs148951374 0.000byClusterbyFreq synonymousTLeu [L]3273
contig referenceCLeu [L]3273
101290816975 rs751545600 0.000 frame shiftALys [K]3275
contig reference-Asn [N]3275
101290821980 rs367568587 0.000byClusterbyFreq missenseGSer [S]2275
contig referenceAAsn [N]2275
101290822981 rs778747721 0.000byFreq synonymousTAsn [N]3275
contig referenceCAsn [N]3275
101290823982 rs1441223197 N.D. missenseGVal [V]1276
contig referenceAMet [M]1276
101290828987 rs1403401706 N.D. synonymousAVal [V]3277
contig referenceCVal [V]3277
101290834993 rs750208198 0.000 synonymousTSer [S]3279
contig referenceCSer [S]3279
101290835994 rs758317481 0.000byFreq missenseGAla [A]1280
contig referenceAThr [T]1280
101290838997 rs1293777974 N.D. missenseTLeu [L]1281
contig referenceGVal [V]1281
1012908421001 rs139257599 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseTPhe [F]2282
contig referenceCSer [S]2282
1012908431002 rs145721583 0.000byClusterbyFreq synonymousGSer [S]3282
synonymousTSer [S]3282
contig referenceCSer [S]3282
1012908451004 rs777900025 0.000 missenseTPhe [F]2283
contig referenceATyr [Y]2283
1012908471006 rs749485098 0.000 missenseCLeu [L]1284
missenseGVal [V]1284
contig referenceAIle [I]1284
1012908551014 rs1201737868 N.D. synonymousALys [K]3286
contig referenceGLys [K]3286
1012908561015 rs1238653778 N.D. missenseALys [K]1287
contig referenceGGlu [E]1287
1012908591018 rs771077454 0.000 missenseTTyr [Y]1288
contig referenceCHis [H]1288
1012908601019 rs774733708 0.000 missenseGArg [R]2288
contig referenceAHis [H]2288
1012908621021 rs1204130358 N.D. missenseCLeu [L]1289
missenseGVal [V]1289
contig referenceTPhe [F]1289
1012908661025 rs1259244073 N.D. missenseAAsp [D]2290
missenseTVal [V]2290
contig referenceGGly [G]2290
1012908691028 rs759820954 0.000 missenseTIle [I]2291
contig referenceCThr [T]2291
1012908711030 rs1286560927 N.D. missenseGVal [V]1292
contig referenceTPhe [F]1292
1012908771036 rs772569765 0.000 nonsenseT1294
contig referenceGGlu [E]1294
1012908801039 rs993004530 N.D. missenseCArg [R]1295
contig referenceTCys [C]1295
1012908831042 rs1356938439 N.D. synonymousCLeu [L]1296
contig referenceTLeu [L]1296
1012908881047 rs776125449 0.000 missenseCHis [H]3297
missenseTHis [H]3297
contig referenceAGln [Q]3297
1012917431049 rs769309900 0.000 missenseGGly [G]2298
contig referenceAGlu [E]2298
1012917451051 rs1271571058 N.D. frame shiftGATA1299
contig reference-Ser [S]1299
1012917461052 rs146584077 0.003byClusterbyFreqWith1000GenomeData0.0006 missenseTLeu [L]2299
contig referenceCSer [S]2299
1012917471053 rs73376757 0.022byClusterbyFreqWith1000GenomeData0.0335 synonymousASer [S]3299
contig referenceGSer [S]3299
1012917481054 rs1308539072 N.D. frame shift-Gly [G]1300
contig referenceCTCTTLeu [L]1300
1012917521058 rs1411080564 N.D. missenseGTrp [W]2301
contig referenceTLeu [L]2301
1012917531059 rs376460391 0.000byClusterbyFreq synonymousALeu [L]3301
contig referenceGLeu [L]3301
1012917531059 rs1351865845 N.D. frame shift(10bp)Arg [R]3302
contig reference-Asp [D]3302
1012917541060 rs772729936 0.000 missenseAAsn [N]1302
contig referenceGAsp [D]1302
1012917551061 rs1010866471 N.D. missenseTVal [V]2302
contig referenceAAsp [D]2302
1012917591065 rs762736591 0.000 synonymousGLeu [L]3303
contig referenceALeu [L]3303
1012917601066 rs369745646 0.000byCluster missenseTTyr [Y]1304
contig referenceCHis [H]1304
1012917621068 rs75817013 0.020byClusterbyFreqWith1000GenomeData0.0158 synonymousTHis [H]3304
contig referenceCHis [H]3304
1012917631069 rs1436601083 N.D. missenseGAla [A]1305
contig referenceAThr [T]1305
1012917641070 rs765166437 N.D. missenseGArg [R]2305
missenseTIle [I]2305
contig referenceCThr [T]2305
1012917651071 rs1320141906 N.D. synonymousGThr [T]3305
contig referenceAThr [T]3305
1012917721078 rs1240400613 N.D. missenseGAla [A]1308
contig referenceAThr [T]1308
1012917791085 rs975985411 N.D. missenseGSer [S]2310
contig referenceCThr [T]2310
1012917831089 rs1182038631 N.D. missenseGLys [K]3311
contig referenceCAsn [N]3311
1012917901096 rs751410004 0.000byFreq missenseALys [K]1314
contig referenceGGlu [E]1314
1012917921098 rs765360190 N.D. missenseCAsp [D]3314
contig referenceAGlu [E]3314
1012918021108 rs754866885 0.000 missenseGGlu [E]1318
contig referenceCGln [Q]1318
1012918051111 rs1223167575 N.D. missenseTPhe [F]1319
contig referenceAIle [I]1319
1012918071113 rs767443404 0.000 missenseGMet [M]3319
contig referenceTIle [I]3319
1012918081114 rs148365055 0.000byClusterbyFreq missenseCGln [Q]1320
missenseGGlu [E]1320
contig referenceALys [K]1320
1012918131119 rs779113758 0.000 synonymousAArg [R]3321
contig referenceGArg [R]3321
1012918221128 rs951390222 N.D. missenseTAsp [D]3324
synonymousGGlu [E]3324
contig referenceAGlu [E]3324
1012918231129 rs746045285 0.000byFreq missenseCPro [P]1325
contig referenceAThr [T]1325
1012918251131 rs1276877130 N.D. synonymousGThr [T]3325
contig referenceAThr [T]3325
1012918311137 rs758694618 0.000 synonymousCLeu [L]3327
contig referenceTLeu [L]3327
1012918331139 rs780516465 0.000 missenseCThr [T]2328
missenseGArg [R]2328
contig referenceTIle [I]2328
1012918351141 rs1186236763 N.D. missenseTPhe [F]1329
contig referenceCLeu [L]1329
1012918371143 rs747409099 0.000 synonymousCLeu [L]3329
contig referenceTLeu [L]3329
1012918441150 rs769219972 0.000 missenseGAsp [D]1332
contig referenceCHis [H]1332
1012918451151 rs982879239 N.D. missenseGArg [R]2332
contig referenceAHis [H]2332
1012918461152 rs1354049052 N.D. synonymousCHis [H]3332
contig referenceTHis [H]3332
1012918471153 rs777291998 0.000 missenseAArg [R]1333
contig referenceGGly [G]1333
1012918501156 rs141602307 0.000byCluster missenseCArg [R]1334
contig referenceASer [S]1334
1012918521158 rs1347771535 N.D. missenseAArg [R]3334
contig referenceTSer [S]3334
1012918551161 rs748750218 0.000 synonymousAGly [G]3335
contig referenceGGly [G]3335
1012918631169 rs769184944 0.000byFreq missenseCThr [T]2338
missenseGArg [R]2338
contig referenceTIle [I]2338
1012918651171 rs75620118 0.019byClusterbyFreqWith1000GenomeData0.0158 missenseAThr [T]1339
missenseGAla [A]1339
contig referenceCPro [P]1339
1012918691175 rs373233138 0.000byClusterbyFreq missenseTMet [M]2340
contig referenceCThr [T]2340
1012918701176 rs774061468 0.000byFreq synonymousAThr [T]3340
contig referenceGThr [T]3340
1012918711177 rs1229722695 N.D. missenseTSer [S]1341
contig referenceCPro [P]1341
1012918741180 rs759335513 0.000 missenseAThr [T]1342
contig referenceGAla [A]1342
1012918761182 rs767355374 0.000 synonymousCAla [A]3342
contig referenceTAla [A]3342
1012918771183 rs201873038 0.000byClusterbyFreqWith1000GenomeData missenseCHis [H]1343
contig referenceGAsp [D]1343
1012918791185 rs1260556214 N.D. synonymousCAsp [D]3343
contig referenceTAsp [D]3343
1012918801186 rs138400123 0.000byClusterbyFreq missenseAIle [I]1344
contig referenceGVal [V]1344
1012918811187 rs765207753 0.000 missenseCAla [A]2344
contig referenceTVal [V]2344
1012918841190 rs750538032 0.000byFreq missenseATyr [Y]2345
contig referenceGCys [C]2345
1012918881194 rs758653363 0.000 synonymousALys [K]3346
contig referenceGLys [K]3346
1012919731198 rs1433151106 N.D. missenseGVal [V]1348
contig referenceTLeu [L]1348
1012919761201 rs764123747 0.000 missenseGAla [A]1349
contig referenceTSer [S]1349
1012919771202 rs952491692 N.D. missenseGCys [C]2349
missenseTPhe [F]2349
contig referenceCSer [S]2349
1012919821207 rs750404350 0.000 missenseGAla [A]1351
contig referenceAThr [T]1351
1012919831208 rs544207946 0.000byFreqWith1000GenomeData0.0002 missenseTIle [I]2351
contig referenceCThr [T]2351
1012919841209 rs766625323 0.000byFreq synonymousCThr [T]3351
synonymousGThr [T]3351
contig referenceAThr [T]3351
1012919861211 rs751829217 0.000 missenseCPro [P]2352
contig referenceTLeu [L]2352
1012919881213 rs1436726138 N.D. missenseALys [K]1353
contig referenceCGln [Q]1353
1012919891214 rs1344265931 N.D. missenseGArg [R]2353
contig referenceAGln [Q]2353
1012919901215 rs755294188 0.000byFreq missenseTHis [H]3353
synonymousGGln [Q]3353
contig referenceAGln [Q]3353
1012919911216 rs753131749 0.001byFreq missenseTLeu [L]1354
contig referenceGVal [V]1354
1012919951220 rs756543556 0.000 missenseTVal [V]2355
contig referenceCAla [A]2355
1012920011226 rs142738390 0.000byCluster missenseCPro [P]2357
contig referenceTLeu [L]2357
1012920041229 rs1340664116 N.D. missenseTPhe [F]2358
contig referenceCSer [S]2358
1012920051230 rs3759365 0.045byClusterbyFreqWith1000GenomeData0.0313 synonymousTSer [S]3358
synonymousTSer [S]3358
contig referenceCSer [S]3358
contig referenceCSer [S]3358
1012920061231 rs1281942323 N.D. missenseTSer [S]1359
contig referenceAThr [T]1359
1012920071232 rs139573850 0.000byCluster missenseTIle [I]2359
contig referenceCThr [T]2359
1012920081233 rs143585998 0.002byClusterbyFreq synonymousGThr [T]3359
synonymousTThr [T]3359
contig referenceAThr [T]3359
1012920131238 rs1283767968 N.D. missenseTPhe [F]2361
contig referenceGCys [C]2361
1012920151240 rs1007380576 N.D. missenseAArg [R]1362
contig referenceTTrp [W]1362
1012920241249 rs778432035 0.000 missenseTPhe [F]1365
contig referenceCLeu [L]1365
1012920251250 rs981984342 N.D. missenseCPro [P]2365
contig referenceTLeu [L]2365
1012920271252 rs144040353 0.000byCluster synonymousCLeu [L]1366
contig referenceTLeu [L]1366
1012920301255 rs1263984046 N.D. missenseAAsn [N]1367
contig referenceGAsp [D]1367
1012920321257 rs771777235 0.000 missenseAGlu [E]3367
contig referenceTAsp [D]3367
1012920331258 rs1198517590 N.D. missenseCLeu [L]1368
contig referenceGVal [V]1368
1012920391264 rs775106501 0.000 missenseCPro [P]1370
contig referenceTSer [S]1370
1012920421267 rs1192033747 N.D. missenseAThr [T]1371
contig referenceGAla [A]1371
1012920521277 rs1478861399 N.D. missenseAGln [Q]2374
contig referenceTLeu [L]2374
1012920531278 rs1489585417 N.D. synonymousALeu [L]3374
contig referenceGLeu [L]3374
1012920551280 rs760523413 0.000 missenseAAsp [D]2375
contig referenceGGly [G]2375
1012920561281 rs1017827660 N.D. synonymousCGly [G]3375
contig referenceTGly [G]3375
1012920601285 rs79571582 0.001byClusterbyFreqWith1000GenomeData0.0012 missenseTTyr [Y]1377
contig referenceAAsn [N]1377
1012920661291 rs1417482180 N.D. missenseGAla [A]1379
contig referenceTSer [S]1379
1012920731298 rs750820584 0.000byClusterbyFreq missenseTLeu [L]2381
contig referenceCPro [P]2381
1012920741299 rs11110737 0.239byClusterbyFreqWith1000GenomeData0.0881 synonymousAPro [P]3381
synonymousAPro [P]3381
synonymousAPro [P]3381
contig referenceGPro [P]3381
contig referenceGPro [P]3381
contig referenceGPro [P]3381
1012920761301 rs1337455632 N.D. missenseCAla [A]2382
contig referenceAGlu [E]2382
1012920771302 rs766537549 0.000byFreq synonymousAGlu [E]3382
contig referenceGGlu [E]3382
1012920781303 rs1231649849 N.D. missenseCPro [P]1383
contig referenceAThr [T]1383
1012920801305 rs1322097579 N.D. synonymousTThr [T]3383
contig referenceCThr [T]3383
1012920841309 rs751741275 0.000 missenseGVal [V]1385
contig referenceAIle [I]1385
1012920861311 rs1312031303 N.D. synonymousTIle [I]3385
contig referenceCIle [I]3385
1012920871312 rs1205088713 N.D. missenseCGln [Q]1386
contig referenceALys [K]1386
1012920881313 rs759786580 0.000 missenseGArg [R]2386
contig referenceALys [K]2386
1012920911316 rs1219517792 N.D. missenseGGly [G]2387
contig referenceAGlu [E]2387
1012920941319 rs1279304110 N.D. missenseGSer [S]2388
contig referenceCThr [T]2388
1012920951320 rs767816331 0.000byFreq synonymousTThr [T]3388
contig referenceCThr [T]3388
1012920961321 rs151242689 0.001byClusterbyFreqWith1000GenomeData0.0004 missenseGVal [V]1389
contig referenceAIle [I]1389
1012920971322 rs756483939 0.000 missenseCThr [T]2389
contig referenceTIle [I]2389
1012920991324 rs764430776 0.000 missenseALys [K]1390
contig referenceGGlu [E]1390
1012921011326 rs754341309 0.000byFreq synonymousGGlu [E]3390
contig referenceAGlu [E]3390
1012931761338 rs1210294486 N.D. missenseCAsp [D]3394
contig referenceGGlu [E]3394
1012931811343 rs1272203105 N.D. missenseCThr [T]2396
contig referenceGArg [R]2396
1012931871349 rs753962857 0.000byFreq frame shift-Thr [T]2399
contig referenceAALys [K]2399
1012931931355 rs201186982 0.000byClusterbyFreqWith1000GenomeData0.0004 missenseAHis [H]2400
contig referenceGArg [R]2400
1012931961358 rs1238612281 N.D. missenseCSer [S]2401
contig referenceTLeu [L]2401
1012932031365 rs371457912 0.000byClusterbyFreq synonymousTPhe [F]3403
contig referenceCPhe [F]3403
1012932041366 rs765765635 0.000 missenseTCys [C]1404
contig referenceASer [S]1404
1012932061368 rs1012291517 N.D. missenseGArg [R]3404
contig referenceTSer [S]3404
1012932121374 rs139484901 0.000byCluster synonymousASer [S]3406
contig referenceTSer [S]3406
1012932131375 rs1472844098 N.D. missenseALys [K]1407
contig referenceGGlu [E]1407
1012932151377 rs757902541 0.000byFreq synonymousGGlu [E]3407
contig referenceAGlu [E]3407
1012932191381 rs1398770595 N.D. missenseTLeu [L]1409
contig referenceAMet [M]1409
1012932251387 rs1031769402 N.D. missenseTSer [S]1411
contig referenceGAla [A]1411
1012932261388 rs868254939 N.D.byCluster missenseTVal [V]2411
contig referenceCAla [A]2411
1012932291391 rs779469626 0.000 missenseCThr [T]2412
contig referenceTMet [M]2412
1012932331395 rs1405899975 N.D. synonymousALys [K]3413
contig referenceGLys [K]3413
1012932421404 rs1311926075 N.D. synonymousAGlu [E]3416
contig referenceGGlu [E]3416
1012932431405 rs746667615 0.000 missenseALys [K]1417
contig referenceCGln [Q]1417
1012954801408 rs1260393140 N.D. TTTTTT [FF]1419
1012954821410 rs1464138988 N.D. synonymousGLeu [L]3418
contig referenceTLeu [L]3418
1012954881416 rs1488995146 N.D. synonymousGLeu [L]3420
contig referenceALeu [L]3420
1012954891417 rs754588793 0.000byFreq missenseGAla [A]1421
contig referenceCPro [P]1421
1012954981426 rs144211284 0.000byClusterbyFreq missenseGVal [V]1424
contig referenceCLeu [L]1424
1012955051433 rs994431858 N.D. missenseGCys [C]2426
contig referenceATyr [Y]2426
1012955071435 rs200302469 0.000byClusterWith1000GenomeData0.0002 missenseGVal [V]1427
contig referenceAIle [I]1427
1012955221450 rs1178657423 N.D. missenseAIle [I]1432
contig referenceTLeu [L]1432
1012955261454 rs146565929 0.000byClusterbyFreq missenseCThr [T]2433
contig referenceTIle [I]2433
1012955291457 rs1453314070 N.D. missenseTVal [V]2434
contig referenceAAsp [D]2434
1012955311459 rs1396311455 N.D. missenseAAsn [N]1435
contig referenceGAsp [D]1435
1012955331461 rs777780544 0.000 synonymousCAsp [D]3435
contig referenceTAsp [D]3435
1012955371465 rs1362473601 N.D. missenseAIle [I]1437
contig referenceGVal [V]1437
1012955391467 rs1400723156 N.D. synonymousGVal [V]3437
contig referenceAVal [V]3437
1012955471475 rs1298681487 N.D. missenseTVal [V]2440
contig referenceAAsp [D]2440
1012955511479 rs1452538775 N.D. missenseCAsp [D]3441
contig referenceAGlu [E]3441
1012955751503 rs749239323 0.000byFreq synonymousGLeu [L]3449
synonymousTLeu [L]3449
contig referenceCLeu [L]3449
1012955841512 rs1385049483 N.D. synonymousTAsn [N]3452
contig referenceCAsn [N]3452
1012955961524 rs780116724 0.000 synonymousAPro [P]3456
synonymousGPro [P]3456
contig referenceTPro [P]3456
1012955981526 rs747091698 0.000byFreq missenseAHis [H]2457
contig referenceCPro [P]2457
1012955991527 rs768818032 0.000byFreq synonymousGPro [P]3457
synonymousTPro [P]3457
contig referenceCPro [P]3457
1012956011529 rs141301122 0.000byCluster missenseTIle [I]2458
contig referenceCThr [T]2458
1012956071535 rs762062106 0.000byFreq missenseAAsp [D]2460
contig referenceGGly [G]2460
1012956081536 rs770138687 0.000 synonymousTGly [G]3460
contig referenceCGly [G]3460
1012956101538 rs773504931 0.000byFreq missenseGTrp [W]2461
missenseTLeu [L]2461
contig referenceCSer [S]2461
1012956111539 rs763457427 0.000byFreq synonymousASer [S]3461
contig referenceGSer [S]3461
1012956151543 rs766797905 0.000 missenseAThr [T]1463
contig referenceGAla [A]1463
1012956231551 rs1268476085 N.D. synonymousGGlu [E]3465
contig referenceAGlu [E]3465
1012956281556 rs751036728 0.000 missenseGCys [C]2467
contig referenceATyr [Y]2467
1012956311559 rs758986812 0.000byFreq missenseGArg [R]2468
contig referenceCPro [P]2468
1012956361564 rs1382425150 N.D. missenseAIle [I]1470
contig referenceGVal [V]1470
1012956461574 rs145108682 0.000byClusterbyFreq missenseAGln [Q]2473
missenseGArg [R]2473
missenseTLeu [L]2473
contig referenceCPro [P]2473
1012956471575 rs777655716 0.000byFreq synonymousAPro [P]3473
contig referenceGPro [P]3473
1012956491577 rs183927312 0.000byClusterWith1000GenomeData0.0002 missenseTLeu [L]2474
contig referenceAGln [Q]2474
1012956521580 rs780531646 0.000byFreq -2476
1012956541582 rs1295237257 N.D. missenseTLeu [L]1476
contig referenceGVal [V]1476
1012956561584 rs1387877584 N.D. synonymousAVal [V]3476
contig referenceGVal [V]3476
1012956571585 rs374596406 0.000byCluster missenseAArg [R]1477
contig referenceGGly [G]1477
1012996831588 rs145833993 0.001byClusterbyFreqWith1000GenomeData0.0014 missenseAIle [I]1478
contig referenceTPhe [F]1478
1012996871592 rs201256747 0.000byClusterWith1000GenomeData0.0002 missenseTPhe [F]2479
contig referenceATyr [Y]2479
1012996881593 rs533380316 0.000With1000GenomeData0.0002 synonymousCTyr [Y]3479
contig referenceTTyr [Y]3479
1012996961601 rs149002619 0.000byClusterbyFreq missenseTLeu [L]2482
contig referenceAGln [Q]2482
1012996961601 rs1318047001 N.D. -2484
1012996971602 rs775157725 0.000 missenseTHis [H]3482
contig referenceGGln [Q]3482
1012997021607 rs1376259112 N.D. missenseCThr [T]2484
contig referenceALys [K]2484
1012997051610 rs200955631 0.002byClusterbyFreqWith1000GenomeData0.0006 missenseAAsn [N]2485
contig referenceCThr [T]2485
1012997061611 rs763687974 0.000byFreq synonymousAThr [T]3485
contig referenceTThr [T]3485
1012997121617 rs1230403020 N.D. synonymousTSer [S]3487
contig referenceCSer [S]3487
1012997131618 rs1311588317 N.D. missenseGGlu [E]1488
contig referenceALys [K]1488
1012997151620 rs1317813459 N.D. missenseCAsn [N]3488
contig referenceGLys [K]3488
1012997191624 rs1217408485 N.D. missenseGGly [G]1490
contig referenceAArg [R]1490
1012997211626 rs143832042 0.001byClusterbyFreqWith1000GenomeData0.0012 missenseTSer [S]3490
contig referenceAArg [R]3490
1012997241629 rs756980822 0.000byFreq synonymousTAsn [N]3491
contig referenceCAsn [N]3491
1012997251630 rs765120524 0.000byFreq missenseALys [K]1492
contig referenceGGlu [E]1492
1012997261631 rs1056411266 N.D. missenseTVal [V]2492
contig referenceAGlu [E]2492
1012997281633 rs1484251317 N.D. nonsenseT1493
contig referenceCGln [Q]1493
1012997291634 rs750322929 0.000 missenseCPro [P]2493
contig referenceAGln [Q]2493
1012997311636 rs535772659 0.001byClusterbyFreqWith1000GenomeData0.0010 missenseCLeu [L]1494
contig referenceTPhe [F]1494
1012997321637 rs555637284 0.000With1000GenomeData0.0002 missenseCSer [S]2494
contig referenceTPhe [F]2494
1012997341639 rs1466704062 N.D. missenseGAla [A]1495
contig referenceCPro [P]1495
1012997361641 rs567757850 0.000With1000GenomeData0.0002 synonymousGPro [P]3495
contig referenceAPro [P]3495
1012997391644 rs756286496 0.000 synonymousGVal [V]3496
contig referenceAVal [V]3496
1012997401645 rs1410327832 N.D. synonymousCLeu [L]1497
contig referenceTLeu [L]1497
1012997441649 rs777877274 0.000byFreq missenseTVal [V]2498
contig referenceAAsp [D]2498
1012997461651 rs1357050671 N.D. missenseGAsp [D]1499
contig referenceCHis [H]1499
1012997471652 rs749569519 0.000 missenseGArg [R]2499
contig referenceAHis [H]2499
1012997481653 rs771200065 0.000byFreq synonymousCHis [H]3499
contig referenceTHis [H]3499
1012997541659 rs148172168 0.000byClusterbyFreq synonymousGLeu [L]3501
contig referenceALeu [L]3501
1012997551660 rs746321739 0.000 missenseCPro [P]1502
contig referenceTSer [S]1502
1012997561661 rs4764643 0.266byClusterbyFreqwith2hitWith1000GenomeData0.1056 missenseGCys [C]2502
missenseGCys [C]2502
missenseGCys [C]2502
missenseGCys [C]2502
missenseGCys [C]2502
missenseTPhe [F]2502
missenseTPhe [F]2502
missenseTPhe [F]2502
missenseTPhe [F]2502
missenseTPhe [F]2502
contig referenceCSer [S]2502
contig referenceCSer [S]2502
contig referenceCSer [S]2502
contig referenceCSer [S]2502
contig referenceCSer [S]2502
1012997581663 rs760286700 0.000 missenseCLeu [L]1503
contig referenceAIle [I]1503
1012997661671 rs1000017917 N.D. missenseCAsn [N]3505
contig referenceGLys [K]3505
1012997701675 rs763709062 0.000byFreq missenseAThr [T]1507
contig referenceCPro [P]1507
1012997711676 rs776116771 0.000 missenseTLeu [L]2507
contig referenceCPro [P]2507
1012997741679 rs761592473 0.000 missenseTLeu [L]2508
contig referenceCPro [P]2508
1012997761681 rs764927303 0.000 missenseCHis [H]1509
contig referenceAAsn [N]1509
1012997901695 rs1420770032 N.D. synonymousGThr [T]3513
contig referenceTThr [T]3513
1012998071712 rs530927598 N.D.byCluster missenseTLeu [L]2519
contig referenceGTrp [W]2519
1012998091714 rs758248732 0.000byFreq missenseAThr [T]1520
contig referenceGAla [A]1520
1012998111716 rs758264525 0.000 synonymousTAla [A]3520
contig referenceAAla [A]3520
1012998171722 rs200805354 0.000byClusterbyFreqWith1000GenomeData0.0002 synonymousTLeu [L]3522
contig referenceCLeu [L]3522
1012998181723 rs139131985 0.002byClusterbyFreqWith1000GenomeData0.0024 missenseAMet [M]1523
contig referenceGVal [V]1523
1012998201725 rs756120789 0.000 synonymousAVal [V]3523
contig referenceGVal [V]3523
1012998211726 rs144043776 0.000byClusterWith1000GenomeData0.0002 missenseAMet [M]1524
contig referenceGVal [V]1524
1012998221727 rs1444885762 N.D. missenseCAla [A]2524
contig referenceTVal [V]2524
1012998231728 rs552124975 N.D.byCluster synonymousAVal [V]3524
contig referenceGVal [V]3524
1012998281733 rs954562180 N.D. missenseAHis [H]2526
missenseTLeu [L]2526
contig referenceCPro [P]2526
1012998291734 rs372787663 0.000byClusterbyFreq synonymousCPro [P]3526
contig referenceTPro [P]3526
1012998311736 rs983657120 N.D. missenseCPro [P]2527
missenseGArg [R]2527
contig referenceAHis [H]2527
1012998331738 rs997502771 N.D. missenseGVal [V]1528
contig referenceAIle [I]1528
1012998341739 rs772966467 0.000 frame shift-Asp [D]2529
contig referenceTArg [R]2529
1012999771747 rs919911727 N.D. missenseTPhe [F]1531
contig referenceCLeu [L]1531
1012999901760 rs764027603 0.000byFreq missenseGArg [R]2535
contig referenceALys [K]2535
1012999921762 rs1405274243 N.D. missenseTLeu [L]1536
contig referenceGVal [V]1536
1012999981768 rs753959114 0.000 missenseAThr [T]1538
contig referenceCPro [P]1538
1012999991769 rs757384332 0.000byFreq missenseTLeu [L]2538
contig referenceCPro [P]2538
1013000001770 rs779302027 0.000 synonymousGPro [P]3538
synonymousTPro [P]3538
contig referenceAPro [P]3538
1013000021772 rs1434492415 N.D. missenseCPro [P]2539
contig referenceTLeu [L]2539
1013000031773 rs146441448 0.000byClusterbyFreqWith1000GenomeData0.0004 synonymousTLeu [L]3539
contig referenceCLeu [L]3539
1013000041774 rs373930284 0.000byClusterbyFreq missenseAIle [I]1540
contig referenceGVal [V]1540
1013000061776 rs1242670363 N.D. synonymousTVal [V]3540
contig referenceCVal [V]3540
1013000071777 rs780632896 0.000 missenseGAla [A]1541
contig referenceAThr [T]1541
1013000091779 rs747505034 0.000byFreq synonymousTThr [T]3541
contig referenceCThr [T]3541
1013000101780 rs137961955 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseASer [S]1542
contig referenceGGly [G]1542
1013000121782 rs143573950 0.000byClusterbyFreq synonymousGGly [G]3542
contig referenceCGly [G]3542
1013000141784 rs1453063359 N.D. missenseGCys [C]2543
contig referenceTPhe [F]2543
1013000261796 rs1214065627 N.D. missenseGArg [R]2547
contig referenceTLeu [L]2547
1013000301800 rs747723866 0.000 missenseALeu [L]3548
contig referenceCPhe [F]3548
1013000311801 rs769278795 0.000byFreq missenseCLeu [L]1549
missenseGVal [V]1549
missenseTLeu [L]1549
contig referenceAMet [M]1549
1013000321802 rs762629718 0.000byClusterbyFreq missenseGArg [R]2549
contig referenceTMet [M]2549
1013000351805 rs1363815189 N.D. missenseAAsn [N]2550
contig referenceCThr [T]2550
1013000371807 rs1472182506 N.D. missenseAIle [I]1551
contig referenceGVal [V]1551
1013000391809 rs1161938119 N.D. synonymousCVal [V]3551
contig referenceTVal [V]3551
1013000401810 rs150558479 0.001byClusterbyFreqWith1000GenomeData0.0012 missenseTTyr [Y]1552
contig referenceGAsp [D]1552
1013000441814 rs774149143 0.000 missenseGArg [R]2553
contig referenceALys [K]2553
1013000471817 rs376003744 0.000byClusterbyFreqWith1000GenomeData0.0002 missenseAGlu [E]2554
contig referenceGGly [G]2554
1013000491819 rs1360515213 N.D. missenseGGly [G]1555
contig referenceASer [S]1555
1013000511821 rs777753971 N.D. synonymousTSer [S]3555
contig referenceCSer [S]3555
1013000541824 rs767524170 0.000 missenseGLeu [L]3556
contig referenceTPhe [F]3556
1013000601830 rs753815915 0.000byFreq missenseTAsn [N]3558
synonymousGLys [K]3558
contig referenceALys [K]3558
1013024531837 rs774094260 0.000 missenseGVal [V]1561
contig referenceTLeu [L]1561
1013024541838 rs1277497687 N.D. missenseCSer [S]2561
contig referenceTLeu [L]2561
1013024551839 rs745700836 0.000 synonymousGLeu [L]3561
contig referenceALeu [L]3561
1013024561840 rs771813278 0.000byFreq missenseCLeu [L]1562
contig referenceTPhe [F]1562
1013024591843 rs1251724305 N.D. missenseAIle [I]1563
contig referenceGVal [V]1563
1013024601844 rs1343814165 N.D. missenseCAla [A]2563
contig referenceTVal [V]2563
1013024661850 rs1198430173 N.D. missenseATyr [Y]2565
contig referenceGCys [C]2565
1013024681852 rs1040408893 N.D. missenseGGlu [E]1566
contig referenceCGln [Q]1566
1013024721856 rs775468260 0.000 missenseTVal [V]2567
contig referenceCAla [A]2567
1013024741858 rs1485715018 N.D. missenseAIle [I]1568
contig referenceGVal [V]1568
1013024761860 rs760596078 0.000 synonymousGVal [V]3568
contig referenceAVal [V]3568
1013024811865 rs765394903 0.000 missenseTIle [I]2570
contig referenceCThr [T]2570
1013024831867 rs773438739 0.000 missenseGVal [V]1571
contig referenceCLeu [L]1571
1013024851869 rs369557175 0.000byCluster synonymousGLeu [L]3571